RNA toxicity and foci formation in microsatellite expansion diseases

Nan Zhang, Tetsuo Ashizawa

Research output: Contribution to journalBook/Film/Article review

75 Scopus citations


More than 30 incurable neurological and neuromuscular diseases are caused by simple microsatellite expansions consisted of 3-6 nucleotides. These repeats can occur in non-coding regions and often result in a dominantly inherited disease phenotype that is characteristic of a toxic RNA gain-of-function. The expanded RNA adopts unusual secondary structures, sequesters various RNA binding proteins to form insoluble nuclear foci, and causes cellular defects at a multisystem level. Nuclear foci are dynamic in size, shape and colocalization of RNA binding proteins in different expansion diseases and tissue types. This review sets to provide new insights into the disease mechanisms of RNA toxicity and foci modulation, in light of recent advancement on bi-directional transcription, antisense RNA, repeat-associated non-ATG translation and beyond.
Original languageEnglish (US)
Article number44
Pages (from-to)17-29
Number of pages13
JournalCurrent Opinion in Genetics and Development
StateE-pub ahead of print - Feb 13 2017


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